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Association of vitamin D receptor gene Cdx2 polymorphism with bone markers in Turner syndrome patients

  • María Peralta López , Viviana Centeno , Mirta Miras , Liliana Silvano , Adriana Pérez, , Liliana Muñoz , Gabriela Sobrero , María Ulla and Nori Tolosa de Talamoni EMAIL logo
Published/Copyright: July 14, 2012

Abstract

Background: Turner syndrome (TS) patients usually have low bone mineral density (BMD) and increased risk of osteoporotic fractures. We have previously demonstrated an association of bb (BsmI polymorphic site) and ff (FokI polymorphic site) vitamin D receptor (VDR) genotypes with reduced BMD in TS patients.

Aim: To analyze the relationship between VDR-Cdx2 polymorphism and BMD as well as bone metabolic variables in TS patients.

Methods: Fifty-five TS patients and 59 control women were studied. VDR-Cdx2 genotypes were determined using TaqMan probes in a real time thermocycler. Lumbar and femoral BMD were determined by dual-energy X-ray absorptiometry (DEXA) and serum intact parathyroid hormone, osteocalcin and β-CrossLaps were determined by electrochemiluminescence.

Results: Patients with genotype GG had higher levels of both osteocalcin and β-CrossLaps as compared to patients with genotype GA (p<0.01 and p<0.05, respectively).

Conclusion: Patients carrying genotype GG have higher levels of bone formation and resorption markers. This indicates a more active bone turnover that could impact on their future bone mineral density.


Corresponding author: Prof. Dr. Nori Tolosa de Talamoni, Cátedra de Bioquímica y Biología Molecular, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Córdoba, Argentina, Phone: +54 351 333024 (Int 121), Fax: +54 31 4333072

Received: 2012-3-27
Accepted: 2012-6-3
Published Online: 2012-07-14
Published in Print: 2012-08-01

©2012 by Walter de Gruyter Berlin Boston

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